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The purpose of this study is to create a clinical registry of patients with FRDA seen at Mayo Clinic.
The purpose of this study is to improve the diagnostic yield and categorize the disease severity of each individual based on a novel quantitative combined metabolomics, clinical and genomic biomarker panel score; innovatively monitor the individual disease progression and response to therapy; and optimize a non-invasive diagnostic urine sample test for clinical application that will examine mtDNA.
The primary objective of this study is to investigate the safety and tolerability of RO7248824 in participants with Angelman Syndrome (AS) aged 1-12 years.
The North American Mitochondrial Disease Consortium (NAMDC)maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
The purpose of this study is to test the safety and effectiveness of synthetically produced (+) Epicatechin for treating patients who have Friedreich's Ataxia, a neurological disorder.
The purpose of this study is to establish a patient and clinical information database, and a genetic material biobank to better characterize the symptoms and unknown genetic causes of Angelman syndrome
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